Several publications and patent documents are cited throughout the specification in order to describe the state of the art to which this invention pertains. Full citations of these references can be found throughout the specification. Each of these citations is incorporated herein by reference as though set forth in full.
A biorepository is a data and biological materials repository that collects, processes, stores, and distributes data, biological samples or specimens to support scientific investigation. Biorepositories can contain or manage samples or specimens from animals, including humans, and other living organisms. Vertebrates, invertebrates, arthropods, plants and other life-forms are just a few of the many classes of living organisms which can be studied by preserving and storing samples taken. Generally, the purpose of a biorepository is to maintain data and biological specimens for future use in a state closely matching the original in vivo state. The four main operations of a biorepository are (i) collection or accession, (ii) processing, (iii) storage or inventory, and (iv) distribution of biological samples or specimens.
The quality of genomic DNA (gDNA) is a core component for all tissue, nucleic acid, and cell biorepository programs. To date, many different techniques have been used for assessing gDNA, however, no standard approach is presently in place for ensuring DNA quality for downstream applications. Currently, most gDNA quality measurements use non-specific assays which demonstrate the global quality of nucleic acid but provide little or no information on gender mismatches, potential sample contamination or ethnicity which are important metrics for any lab reposing or managing samples in a repository setting. Presently, most laboratories use gDNA for discovery applications that involve analysis via single nucleotide polymorphism (SNP) genotyping and Next Generation sequencing technologies, both of which have a polymerase chain reaction (PCR) component to their workflow.
Laboratory services are an essential component to most all biorepositories. Each process must have the appropriate workflow, analytical and functional quality control (QC) measures to ensure that the biologicals being extracted, stored and managed are of the highest quality.
There remains an unmet need for a standardized method for ensuring high quality of nucleic acids stored in such repositories as well as methods of analyzing such nucleic acids in downstream applications including and not limited to high-throughput whole genome and transcriptome analyses.